ClinVar Miner

Submissions for variant NM_000368.5(TSC1):c.1677C>T (p.Cys559=)

gnomAD frequency: 0.00021  dbSNP: rs368317116
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000465731 SCV000562520 benign Tuberous sclerosis 1 2025-01-26 criteria provided, single submitter clinical testing
Ambry Genetics RCV000575849 SCV000675378 likely benign Hereditary cancer-predisposing syndrome 2017-02-01 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
GeneDx RCV001696911 SCV000719070 likely benign not provided 2021-02-26 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000465731 SCV002040425 benign Tuberous sclerosis 1 2021-11-07 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV000575849 SCV002530921 benign Hereditary cancer-predisposing syndrome 2021-10-30 criteria provided, single submitter curation
Fulgent Genetics, Fulgent Genetics RCV002496842 SCV002808206 likely benign Lymphangiomyomatosis; Tuberous sclerosis 1; Isolated focal cortical dysplasia type II 2021-12-23 criteria provided, single submitter clinical testing

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